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Next-generation sequencing panel identified a de novo heterozygous likely pathogenic <jats:italic>OTX2<\/jats:italic> variant, c.259G&gt;A, [p.(Glu87Lys)].<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Visual acuity was 20\/40 OD and 20\/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted b:a ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This case study contributes to further understanding of <jats:italic>OTX2<\/jats:italic>-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10633-024-09983-w","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T07:01:48Z","timestamp":1721286108000},"page":"115-123","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study"],"prefix":"10.1007","volume":"149","author":[{"given":"Prathiba","family":"Ramakrishnan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew K.","family":"Kenworthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Alexis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina M.","family":"Lamey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-9930","authenticated-orcid":false,"given":"Fred K.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"issue":"1","key":"9983_CR1","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1006\/geno.1994.1343","volume":"22","author":"K Kastury","year":"1994","unstructured":"Kastury K, Druck T, Huebner K et al (1994) Chromosome locations of human EMX and OTX genes. 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